PDF(Pubmed)
Abstract：
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy. A 66-year-old man presented with a 60-year history of episodic weakness in the proximal muscles of the upper and lower limbs. The man has been diagnosed with muscle pathology and has undergone genetic examinations in many hospitals since childhood. We conducted a correct diagnosis in combination with the patient\'s history, electrical physiology, and genetic analysis and identified a heterozygous KCNJ2 gene variant (c.220A > G; p.T74A). Patients with ATS can develop permanent myasthenia characterized by chronic progressive myopathy. ATS patients should also pay special attention to the risks of anesthesia in surgery, including malignant hyperthermia (MH), muscle spasms affecting tracheal intubation or ventilation, and ventilator weakness. Early diagnosis and therapy could help delay the onset of myasthenia and prevent risks associated with anesthesia accidents.
摘要：
Andersen-Tawil综合征（ATS）是由KCNJ2基因突变引起的罕见周期性瘫痪。这里,我们报道了一例误诊为肌营养不良的ATS患者。一名66岁的男子在上肢和下肢的近端肌肉中出现了60年的偶发性无力。该名男子已被诊断出患有肌肉病理学，并从小就在许多医院接受了基因检查。我们结合患者的病史进行了正确的诊断，电生理学,和遗传分析，并鉴定了一个杂合的KCNJ2基因变体（c.220A>G；p.T74A）。患有ATS的患者可以发展以慢性进行性肌病为特征的永久性肌无力。ATS患者还应特别注意手术中的麻醉风险，包括恶性高热（MH），影响气管插管或通气的肌肉痉挛，和呼吸机无力。早期诊断和治疗可以帮助延迟肌无力的发作并预防与麻醉事故相关的风险。
